Renal Hypodysplasia/aplasia 1 malady

Genetic diseases, Rare diseases, Nephrological diseases, Metabolic diseases, Fetal diseases categories

Aliases & Classifications for Renal Hypodysplasia/aplasia 1

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46OMIM, 8Disease Ontology, 42NIH Rare Diseases, 10DISEASES, 44Novoseek, 48Orphanet, 22GTR, 9diseasecard, 61UMLS, 20GeneTests, 34MESH via Orphanet, 26ICD10 via Orphanet
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Aliases & Descriptions for Renal Hypodysplasia/aplasia 1:

Name: Renal Hypodysplasia/aplasia 1 46
Renal Agenesis 46 8 42 10 44 48
Renal Adysplasia 8 9 22 61
Urogenital Adysplasia, Hereditary 42 20
Maternal Riboflavin Deficiency 42 48
Renal Hypoplasia, Isolated 46 22
Bilateral Renal Agenesis 42 48
Hereditary Urogenital Adysplasia 8
Hereditary Renal Agenesis 42
Hereditary Renal Aplasia 8
Renal Aplasia 8
Hra 42
Bra 42


Characteristics (Orphanet epidemiological data):

bilateral renal agenesis:
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: 1-9/100000 (Europe),1-9/100000 (France),1-9/100000 (Germany),1-9/100000 (Italy),1-9/100000 (Netherlands),1-5/10000 (Ireland),1-9/100000 (Norway),1-9/100000 (Poland),1-9/1000000 (Spain),1-9/100000 (Hungary),1-5/10000 (Denmark),1-9/100000 (Austria),1-9/100000 (Belgium),1-5/10000 (Croatia),1-5/10000 (Malta),1-9/100000 (United Kingdom),1-9/100000 (Ukraine); Age of onset: Antenatal; Age of death: infantile

External Ids:

OMIM46 191830
Disease Ontology8 DOID:14766
Orphanet48 1848, 411712, 411709
MESH via Orphanet34 C536482
ICD10 via Orphanet26 Q60.1

Summaries for Renal Hypodysplasia/aplasia 1

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OMIM:46 Renal hypodysplasia/aplasia belongs to a group of perinatally lethal renal diseases, including bilateral renal aplasia,... (191830) more...

MalaCards based summary: Renal Hypodysplasia/aplasia 1, also known as renal agenesis, is related to renal dysplasia and primary hyperoxaluria, and has symptoms including epicanthus, hypertelorism and abnormality of the nose. An important gene associated with Renal Hypodysplasia/aplasia 1 is ITGA8 (integrin, alpha 8), and among its related pathways are Regulation of Actin Cytoskeleton and PI3K-Akt signaling pathway. Affiliated tissues include kidney, lung and uterus, and related mouse phenotypes are renal/urinary system and hearing/vestibular/ear.

Related Diseases for Renal Hypodysplasia/aplasia 1

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Diseases in the Renal Hypodysplasia/aplasia 1 family:

Renal Hypodysplasia/aplasia 2

Diseases related to Renal Hypodysplasia/aplasia 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 223)
idRelated DiseaseScoreTop Affiliating Genes
1renal dysplasia30.2RET, PAX2
2primary hyperoxaluria30.2RET, PAX2
3unilateral renal agenesis11.0
4costello syndrome10.9
7jejunal atresia with renal adysplasia10.5
9aniridia renal agenesis psychomotor retardation10.5
10potter's syndrome10.4
11epidermal nevus, somatic10.4
12thyroid cancer10.4
13renal adysplasia dominant type10.4
14upk3a-related renal adysplasia10.4
15ret-related renal adysplasia10.4
16schimmelpenning-feuerstein-mims syndrome, somatic mosaic10.4
18riboflavin deficiency10.4
19thyroid carcinoma, follicular10.4
20oral squamous cell carcinoma10.4
21bladder cancer, somatic10.3
22spitz nevus10.3
23fraser syndrome10.3
24kallmann syndrome10.3
25kidney disease10.3
27aniridia ataxia renal agenesis psychomotor retardation10.3
28double uterus-hemivagina-renal agenesis10.3
29leopard syndrome10.2
30phacomatosis pigmentokeratotica10.2
36bilateral renal agenesis dominant type10.2
38renal hypoplasia10.2
39colorectal cancer10.2
40polycystic kidney disease10.2
43renal agenesis meningomyelocele mullerian defect10.2
45bilateral renal hypoplasia10.2
47pancreatic cancer10.1
48cardiofaciocutaneous syndrome10.1
49duchenne muscular dystrophy10.1
50dengue hemorrhagic fever10.1

Graphical network of the top 20 diseases related to Renal Hypodysplasia/aplasia 1:

Diseases related to renal hypodysplasia/aplasia 1

Symptoms for Renal Hypodysplasia/aplasia 1

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Symptoms by clinical synopsis from OMIM:


Clinical features from OMIM:



 48 (show all 18)
  • hypertelorism
  • epicanthic folds
  • short columella/depressed nasal tip
  • low set ears/posteriorly rotated ears
  • hypoplastic lungs/pulmonary hypoplasia/agenesis
  • agenesis/hypoplasia/aplasia of kidneys
  • stillbirth/neonatal death
  • oligoamnios
  • micrognathia/retrognathia/micrognathism/retrognathism
  • sacro-coccyx/sacrum anomaly
  • tracheo-esophageal fistula/esophageal atresia/stenosis
  • intestinal/colonic anomaly
  • imperforate anus/rectum atresia/agenesis/recto-vaginal/vesical/perineal fistula
  • congenital cardiac anomaly/malformation/cardiopathy
  • lateral cleft lip/gingival cleft/paramedian nasal cleft
  • cleft palate without cleft lip/submucosal cleft palate/bifid uvula
  • sirenomelia/mermaid/lower limb fusion
  • uterine/uterus/fallopian tubes anomalies

HPO human phenotypes related to Renal Hypodysplasia/aplasia 1:

(show all 35)
id Description Frequency HPO Source Accession
1 epicanthus hallmark (90%) HP:0000286
2 hypertelorism hallmark (90%) HP:0000316
3 abnormality of the nose hallmark (90%) HP:0000366
4 low-set, posteriorly rotated ears hallmark (90%) HP:0000368
5 oligohydramnios hallmark (90%) HP:0001562
6 aplasia/hypoplasia of the lungs hallmark (90%) HP:0006703
7 renal hypoplasia/aplasia hallmark (90%) HP:0008678
8 micrognathia typical (50%) HP:0000347
9 abnormality of the intestine typical (50%) HP:0002242
10 malformation of the heart and great vessels typical (50%) HP:0002564
11 tracheoesophageal fistula typical (50%) HP:0002575
12 abnormality of the sacrum typical (50%) HP:0005107
13 urogenital fistula typical (50%) HP:0100589
14 abnormality of female internal genitalia occasional (7.5%) HP:0000008
15 cleft palate occasional (7.5%) HP:0000175
16 sirenomelia occasional (7.5%) HP:0010497
17 non-midline cleft lip occasional (7.5%) HP:0100335
18 autosomal dominant inheritance HP:0000006
19 autosomal recessive inheritance HP:0000007
20 proteinuria HP:0000093
21 renal agenesis HP:0000104
22 renal dysplasia HP:0000110
23 vaginal atresia HP:0000148
24 retrognathia HP:0000278
25 hypertelorism HP:0000316
26 low-set ears HP:0000369
27 primary amenorrhea HP:0000786
28 bicornuate uterus HP:0000813
29 hypertension HP:0000822
30 oligohydramnios HP:0001562
31 abnormality of the foot HP:0001760
32 talipes equinovarus HP:0001762
33 potter facies HP:0002009
34 pulmonary hypoplasia HP:0002089
35 congenital onset HP:0003577

Drugs & Therapeutics for Renal Hypodysplasia/aplasia 1

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Drug clinical trials:

Search ClinicalTrials for Renal Hypodysplasia/aplasia 1

Search NIH Clinical Center for Renal Hypodysplasia/aplasia 1

Genetic Tests for Renal Hypodysplasia/aplasia 1

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Genetic tests related to Renal Hypodysplasia/aplasia 1:

id Genetic test Affiliating Genes
1 Urogenital Adysplasia, Hereditary20
2 Renal Adysplasia22
3 Renal Hypoplasia, Isolated22

Anatomical Context for Renal Hypodysplasia/aplasia 1

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MalaCards organs/tissues related to Renal Hypodysplasia/aplasia 1:

Kidney, Lung, Uterus, Heart, Colon

Animal Models for Renal Hypodysplasia/aplasia 1 or affiliated genes

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MGI Mouse Phenotypes related to Renal Hypodysplasia/aplasia 1:

idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053678.9ITGA8, RET, PAX2
2MP:00053778.5FGF20, ITGA8, PAX2
3MP:00036317.8PAX2, RET, ITGA8, FGF20

Publications for Renal Hypodysplasia/aplasia 1

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Variations for Renal Hypodysplasia/aplasia 1

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UniProtKB/Swiss-Prot genetic disease variations for Renal Hypodysplasia/aplasia 1:

id Symbol AA change Variation ID SNP ID

Clinvar genetic disease variations for Renal Hypodysplasia/aplasia 1:

id Gene Variation Type Significance SNP ID Assembly Location
1ITGA8ITGA8: c.2982+2T> Csingle nucleotide variantPathogenicGRCh37Chr 10, 15573047: 15573047
2ITGA8NM_003638.2(ITGA8): c.1622_1626delAGGTG (p.Glu541Alafs)deletionPathogenicGRCh37Chr 10, 15649814: 15649818
3ITGA8NM_003638.2(ITGA8): c.1219G> A (p.Gly407Arg)single nucleotide variantPathogenicGRCh37Chr 10, 15686209: 15686209
4FGF20NM_019851.2(FGF20): c.337delG (p.Val113Trpfs)deletionPathogenicGRCh37Chr 8, 16853217: 16853217

Expression for genes affiliated with Renal Hypodysplasia/aplasia 1

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Search GEO for disease gene expression data for Renal Hypodysplasia/aplasia 1.

Pathways for genes affiliated with Renal Hypodysplasia/aplasia 1

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Pathways related to Renal Hypodysplasia/aplasia 1 according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
Show member pathways
9.2FGF20, ITGA8
29.2FGF20, ITGA8
39.1FGF20, RET

Compounds for genes affiliated with Renal Hypodysplasia/aplasia 1

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GO Terms for genes affiliated with Renal Hypodysplasia/aplasia 1

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Biological processes related to Renal Hypodysplasia/aplasia 1 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1inner ear morphogenesisGO:00424729.4ITGA8, PAX2
2positive regulation of metanephric glomerulus developmentGO:00723009.3RET, PAX2
3ureter maturationGO:00357999.2RET, PAX2
4cellular response to retinoic acidGO:00713009.0RET, PAX2

Sources for Renal Hypodysplasia/aplasia 1

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26ICD10 via Orphanet
34MESH via Orphanet
47OMIM via Orphanet
57SNOMED-CT via Orphanet
62UMLS via Orphanet